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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Caveolinopathy - New mutations and additional symptoms
Neuromuscular Disorders, Volume 18, No. 7, Year 2008
Notification
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Description
Mutations in the caveolin-3 gene (CAV3) can lead to a broad spectrum of clinical phenotypes. Phenotypes that have so far been associated with primary caveolin-3 deficiency include limb girdle muscular dystrophy, rippling muscle disease, distal myopathy and hyperCKaemia. This is the first report describing the clinical, pathological and genetic features of patients with caveolinopathy from the UK. Ten patients (six families) were identified via the National Commissioning Group (NCG) service for patients with limb girdle muscle dystrophy in Newcastle. Myalgia was the most prominent symptom in our cohort of patients and for 50% it was the reason for referral. Muscle weakness was only found in 60% of the patients, whereas rippling muscle movement was present in 80%. One of the patients reported episodes of myoglobinuria and another one episodes of hypoglycaemia. Five different mutations were identified, two of which were novel and three that had previously been described. Caveolinopathy needs to be considered as a differential diagnosis in a range of clinical situations, including in patients who do not have any weakness. Indeed, rippling muscles are a more frequent symptom than weakness, and can be detected in childhood. Presentation with myalgia is common and management of it as well as of myoglobinuria and hypoglycaemia may have a major impact on the patients' quality of life. © 2008 Elsevier B.V. All rights reserved.
Authors & Co-Authors
Aboumousa, Ahmed
United Kingdom, Newcastle
Newcastle University
Egypt, Cairo
Faculty of Medicine
Hoogendijk, Jessica
United Kingdom, Newcastle
Newcastle University
Netherlands, Utrecht
Rudolf Magnus Institute of Neuroscience
Charlton, Richard
United Kingdom, Newcastle
Newcastle University
Barresi, Rita
United Kingdom, Newcastle
Newcastle University
Herrmann, Ralf
Germany, Essen
Universitätsklinikum Essen
Voit, Thomas
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Hudson, Judith
United Kingdom, Newcastle
Newcastle University
Roberts, Mark E.
United Kingdom, Manchester
Withington Community Hospital
Hilton-Jones, David
United Kingdom, Oxford
John Radcliffe Hospital
Eagle, Michelle
United Kingdom, Newcastle
Newcastle University
Bushby, Kate M.D.
United Kingdom, Newcastle
Newcastle University
Straub, V. W.
United Kingdom, Newcastle
Newcastle University
Statistics
Citations: 58
Authors: 12
Affiliations: 7
Identifiers
Doi:
10.1016/j.nmd.2008.05.003
ISSN:
09608966
Research Areas
Disability
Genetics And Genomics
Maternal And Child Health
Study Design
Cohort Study